a-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis

Abstract

a-Thalassemia is a synthesis hemoglobinopathy with a worldwide distribution. a-thalassemia- 23.7kb (a-Thal23.7kb) was investigated by PCR and standard hematologic analysis techniques in 106 pregnant women – 53 heterozygous for hemoglobin (Hb) A and C (AC) and 53 homozygous for the normal Hb A (AA) with similar ages and race ancestry. Eleven (21%) of AC women were a-Thal23.7kb heterozygous and 1 (2%) was homozygous, while 12 AA women (23%) were heterozygous. In the AA group, the MCV differed among those with normal a genes and those with a-Thal23.7kb (P ¼ 0.031). Statistical analysis of AC group patients with normal a genes and a-Thal23.7kb carriers showed differences in MCV (P ¼ 0.001); MCH (P ¼ 0.003) and Hb C concentrations (P ¼ 0.011). Analysis of AA and AC group patients with normal a genes showed differences in RBC (P ¼ 0.033), Hb concentration (P ¼ 0.003) and MCHC (P < 0.0001). There were no statistically significant differences for any hematologic parameters between AC and AA group patients with the a-Thal23.7kb genotype. The AC a-Thal23.7kb homozygous women had low hematologic parameters. Serum ferritin levels were normal among the groups studied. These results emphasize the importance of diagnosis and follow-up of patients with hemoglobinopathy carriers during pregnancy in order to administer adequate therapy and avoid further complications for mothers and newborns. Keywords Hemoglobinopathies, hemoglobin C, pregnancy.